Allele Registry

Canonical Allele Identifier: PA203886

Gene: ABCA3 HGNC NCBI

ClinVar RCV:

RCV000185556

RCV000224775

RCV000615487

RCV000735281

RCV002284194

RCV002372142

ClinVar Variation:

203381

HGVS (amino-acid)	Matching Registered Transcripts
NP_001080.2:p.Glu292Val	CA203885 NM_001089.3:c.875A>T